Mother’s thanks for pilot project that saved baby

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A BABY who could have died from a rare metabolic disease was saved because she was chosen to take part in a pioneering screening project led by specialist 
medics from Yorkshire.

Five-month-old Habul Khatoon was one of 430,000 babies chosen by doctors from Sheffield Children’s Hospital to have a new blood test checking for five serious conditions.

Five-month-old Habul Khatoon with her mum Fahmeeda Khatoon

Five-month-old Habul Khatoon with her mum Fahmeeda Khatoon

And she was just hours away from death or serious disability when nurses discovered she had Maple Syrup Urine Disease (MSUD) and she was rushed to hospital before it was too late.

He mother Fahmeeda Khatoon said: “It was a big shock to begin with. The nurses called me on the phone and then a few minutes later they were at the door.

“They called an ambulance straight away to take Habul into hospital. At this point she wasn’t crying, she was lethargic and already in a coma-like state.”

Sheffield Children’s NHS Foundation Trust ran the UK pilot to screen babies across the country for five extra rare diseases on top of the current five for which every newborn is screened.

The Trust said it was working closely on the project with other centres across the country including Leeds, Birmingham, London and Manchester.

So far 228,000 babies have been screened and seven children found to have rare conditions which would otherwise have limited their lives.

The results from the pilot will be evaluated by the NHS National Screening Committee early next year before a decision is made on whether to introduce such screening nationwide.

Professor Jim Bonham, director for newborn screening at the Sheffield Trust, said: “So far the project is progressing extremely well. Seven children already have been discovered and this is very encouraging.

“We’re very much looking forward to seeing the end result of this project and hope it will have changed a significant number of children’s lives for the better.”

Mrs Khatoon had a normal pregnancy and only realised there was something wrong when her daughter did not settle like normal babies.

But the condition is so rare and symptoms initially so broad it could have been any number of ailments when she visited the GP six days after coming home.

“She was trying to cry but she wasn’t able to. We didn’t know what to do,” said Mrs Khatoon.

The newborn screening test was done six days after Habul was born in Birmingham and the results came back two days later showing she had MSUD, a genetic metabolic disorder which stops the body breaking down parts of proteins, called amino acids.

The test identified high levels of the amino acid leucine in Habul’s blood, a condition which can lead to coma, brain damage and death if not treated.

“She was a very lucky girl,” said Mrs Khatoon, 30. “She had to be taken straight to the Intensive Care Unit.”

Habul was put on dialysis to cleanse her blood, then began special feeds given via a feeding pump.

After just 48 hours she came out of the coma-like state and could cry normally and following her specially adapted feeds within eight hours she was back to being a normal child.

She is being fed low leucine feeds made up by her mother who has received special training on how to feed her daughter correctly. As she grows up Habul will need to have a very low protein diet avoiding eggs, fish and meats amongst other foodstuffs in order to stay well.

Dr Anupam Chakrapani, a consultant at Birmingham Children’s Hospital, said: “The expanded newborn screening project sped up the diagnosis and treatment of this rare condition and enabled Habul to recover quickly and she has remained very well.”

Mrs Khatoon added: “I’m very thankful. Back home in Pakistan there might be many children that pass away on a daily basis so I’m very appreciative of the programme.”